Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001064577 | SCV001229487 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-04-10 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHRNA4 protein function. ClinVar contains an entry for this variant (Variation ID: 98329). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. This variant is present in population databases (rs121912248, gnomAD 0.01%). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 195 of the CHRNA4 protein (p.His195Gln). |
| Psychiatry Genetics Yale University | RCV000084619 | SCV000116755 | not provided | Tobacco use disorder | no assertion provided | not provided |